rs727504443
|
0.851 |
0.120 |
6 |
7565521 |
splice donor variant |
G/A
|
snv
|
|
7.0E-06
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
1999 |
2014 |
rs727504443
|
0.851 |
0.120 |
6 |
7565521 |
splice donor variant |
G/A
|
snv
|
|
7.0E-06
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
1999 |
2014 |
rs727504443
|
0.851 |
0.120 |
6 |
7565521 |
splice donor variant |
G/A
|
snv
|
|
7.0E-06
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
1999 |
2014 |
rs727504443
|
0.851 |
0.120 |
6 |
7565521 |
splice donor variant |
G/A
|
snv
|
|
7.0E-06
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
1999 |
2014 |
rs1057517903
|
0.882 |
0.120 |
6 |
7575294 |
splice acceptor variant |
G/C
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1057517903
|
0.882 |
0.120 |
6 |
7575294 |
splice acceptor variant |
G/C
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs113726158
|
0.925 |
0.120 |
6 |
7565357 |
splice acceptor variant |
A/G;T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs113726158
|
0.925 |
0.120 |
6 |
7565357 |
splice acceptor variant |
A/G;T
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1554106743
|
0.925 |
0.120 |
6 |
7567819 |
frameshift variant |
G/-
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2005 |
2014 |
rs1554106743
|
0.925 |
0.120 |
6 |
7567819 |
frameshift variant |
G/-
|
delins
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2005 |
2014 |
rs1554106830
|
0.925 |
0.120 |
6 |
7568435 |
splice acceptor variant |
A/G
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1554106830
|
0.925 |
0.120 |
6 |
7568435 |
splice acceptor variant |
A/G
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1554107741
|
0.925 |
0.120 |
6 |
7576457 |
splice donor variant |
G/T
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1554107741
|
0.925 |
0.120 |
6 |
7576457 |
splice donor variant |
G/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1554108012
|
0.882 |
0.120 |
6 |
7579323 |
stop gained |
C/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2005 |
2014 |
rs1554108012
|
0.882 |
0.120 |
6 |
7579323 |
stop gained |
C/T
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2005 |
2014 |
rs2076295
|
0.882 |
0.080 |
6 |
7562999 |
intron variant |
T/G
|
snv
|
|
0.46
|
Chronic Obstructive Airway Disease
|
Respiratory Tract Diseases
|
0.710 |
1.000 |
3 |
2017 |
2019 |
rs2076295
|
0.882 |
0.080 |
6 |
7562999 |
intron variant |
T/G
|
snv
|
|
0.46
|
Idiopathic Pulmonary Fibrosis
|
Respiratory Tract Diseases
|
0.730 |
1.000 |
3 |
2016 |
2019 |
rs397516955
|
0.790 |
0.120 |
6 |
7562753 |
stop gained |
G/A
|
snv
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2015 |
rs397516955
|
0.790 |
0.120 |
6 |
7562753 |
stop gained |
G/A
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2015 |
rs727503000
|
1.000 |
0.080 |
6 |
7579663 |
frameshift variant |
-/A
|
delins
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs727503000
|
1.000 |
0.080 |
6 |
7579663 |
frameshift variant |
-/A
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs727503003
|
1.000 |
0.080 |
6 |
7581012 |
frameshift variant |
-/A
|
delins
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2011 |
rs727503003
|
1.000 |
0.080 |
6 |
7581012 |
frameshift variant |
-/A
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2011 |
rs1554108859
|
0.925 |
0.120 |
6 |
7583727 |
frameshift variant |
-/A
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2013 |
2017 |